CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS.
Palmer EE, et al. Among authors: sidhu a.
Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13.
Clin Genet. 2021.
PMID: 34212383